MOLECULAR DIAGNOSTICS EXAM #3
Q&A
Explain how restriction fragment length polymorphisms are inherited - ANSWER-for
each locus one allele is inherited from each parent
What is a polymorphism? - ANSWER-A change in DNA in a significant part of the
population
What is a mutation? - ANSWER-Smaller percent of population
How does karyotyping work? - ANSWER-A way to detect chromosomal
abnormalities, observation of metaphase large changed (1000 to 1,000,000 bp
changed detected )
What is a phenotype? - ANSWER-Physical appearance based on genotype
(presentation)
What is a genotype? - ANSWER-The alleles present for gene (actual nucleotide
sequence)
What different chromosome mutation can occur? - ANSWER-Translocation,
inversions, deletions, and insertions, aneuploidy (gain or loss of entire chromosome)-
more likely to see an addition of a chromosome (deletion of chromosome would
result in death)
Describe the different karyotyping methods (chromosome banding, FISH,
chromosome painting), how they work, and what they are used to identify -
ANSWER-Banding- g banding with giemsa stain to see banding pattern on
chromosome q-banding-uses fluroscent microscope r banding- adds heat for higher
resolution c-banding- stain centromere FISH- smaller mutations at the end of the
chromosome, can detect aneuploidys In interphase. FISH probes, CEP(centromere)
WCP(entire) DNA sequence probe
Describe the three basic patterns of inheritance, how they work, and what the
pedigree diagram associated with each pattern looks like - ANSWER-autosomal
dominant- one mutant alleleRecessive- two mutant alleles to see phenotype Sex
linked- on x chromosome (females less likely to display mutation since they have two
x chromosomes) all daughters of affected father will get mutation but not sons
Explain detection of the mutation associated with factor V Leiden mutation by PCR-
RFLP - ANSWER-Removes retriction site. Go from 3 pieces to 2 of PCR product of
someone who has the mutation. Heterozygous has 4 bands
What are some examples of disorders that follow non-mendelian inheritance
patterns? - ANSWER-Huntington's CAG, fragile X- CGG trinucleotide repeat
Q&A
Explain how restriction fragment length polymorphisms are inherited - ANSWER-for
each locus one allele is inherited from each parent
What is a polymorphism? - ANSWER-A change in DNA in a significant part of the
population
What is a mutation? - ANSWER-Smaller percent of population
How does karyotyping work? - ANSWER-A way to detect chromosomal
abnormalities, observation of metaphase large changed (1000 to 1,000,000 bp
changed detected )
What is a phenotype? - ANSWER-Physical appearance based on genotype
(presentation)
What is a genotype? - ANSWER-The alleles present for gene (actual nucleotide
sequence)
What different chromosome mutation can occur? - ANSWER-Translocation,
inversions, deletions, and insertions, aneuploidy (gain or loss of entire chromosome)-
more likely to see an addition of a chromosome (deletion of chromosome would
result in death)
Describe the different karyotyping methods (chromosome banding, FISH,
chromosome painting), how they work, and what they are used to identify -
ANSWER-Banding- g banding with giemsa stain to see banding pattern on
chromosome q-banding-uses fluroscent microscope r banding- adds heat for higher
resolution c-banding- stain centromere FISH- smaller mutations at the end of the
chromosome, can detect aneuploidys In interphase. FISH probes, CEP(centromere)
WCP(entire) DNA sequence probe
Describe the three basic patterns of inheritance, how they work, and what the
pedigree diagram associated with each pattern looks like - ANSWER-autosomal
dominant- one mutant alleleRecessive- two mutant alleles to see phenotype Sex
linked- on x chromosome (females less likely to display mutation since they have two
x chromosomes) all daughters of affected father will get mutation but not sons
Explain detection of the mutation associated with factor V Leiden mutation by PCR-
RFLP - ANSWER-Removes retriction site. Go from 3 pieces to 2 of PCR product of
someone who has the mutation. Heterozygous has 4 bands
What are some examples of disorders that follow non-mendelian inheritance
patterns? - ANSWER-Huntington's CAG, fragile X- CGG trinucleotide repeat
